LOCUS       NM_000022               1496 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens adenosine deaminase (ADA), transcript variant 1, mRNA.
ACCESSION   NM_000022
VERSION     NM_000022.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1496)
  AUTHORS   Naralan,Y.S., Dogan,O., Elgun,S., Oztop,D.B. and Kilic,B.G.
  TITLE     The Activity of Adenosine Deaminase and Dipeptidyl Peptidase IV in
            Children With Attention Deficit Hyperactivity Disorder
  JOURNAL   J Atten Disord 28 (1), 25-30 (2024)
   PUBMED   37695015
  REMARK    GeneRIF: The Activity of Adenosine Deaminase and Dipeptidyl
            Peptidase IV in Children With Attention Deficit Hyperactivity
            Disorder.
REFERENCE   2  (bases 1 to 1496)
  AUTHORS   Jennings,M.R., Min,S., Xu,G.S., Homayuni,K., Suresh,B., Haikal,Y.A.
            and Blazeck,J.
  TITLE     Optimized expression and purification of a human adenosine
            deaminase in E. coli and characterization of its Asp8Asn variant
  JOURNAL   Protein Expr Purif 213, 106362 (2024)
   PUBMED   37683902
  REMARK    GeneRIF: Optimized expression and purification of a human adenosine
            deaminase in E. coli and characterization of its Asp8Asn variant.
REFERENCE   3  (bases 1 to 1496)
  AUTHORS   Jedrzejewska,A., Kawecka,A., Braczko,A., Romanowska-Kocejko,M.,
            Stawarska,K., Deptula,M., Zawrzykraj,M., Franczak,M., Krol,O.,
            Harasim,G., Walczak,I., Pikula,M., Hellmann,M. and Kutryb-Zajac,B.
  TITLE     Changes in Adenosine Deaminase Activity and Endothelial Dysfunction
            after Mild Coronavirus Disease-2019
  JOURNAL   Int J Mol Sci 24 (17), 13140 (2023)
   PUBMED   37685949
  REMARK    GeneRIF: Changes in Adenosine Deaminase Activity and Endothelial
            Dysfunction after Mild Coronavirus Disease-2019.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1496)
  AUTHORS   Zhang,Y., Liu,W., Shu,Z., Li,Y., Sun,F., Li,Z.G., Han,T.X.,
            Mao,H.W. and Wang,T.Y.
  TITLE     Delayed-onset adenosine deaminase deficiency with a novel
            synonymous mutation and a case series from China
  JOURNAL   World J Pediatr 19 (7), 687-700 (2023)
   PUBMED   37154862
  REMARK    GeneRIF: Delayed-onset adenosine deaminase deficiency with a novel
            synonymous mutation and a case series from China.
REFERENCE   5  (bases 1 to 1496)
  AUTHORS   Zhang,H., Ye,H., Xu,Z., Dong,K., Wang,Y., Geng,L. and Wang,S.
  TITLE     Correlation of serum adenosine deaminase activity with disease
            activity in patients with primary Sjogren's syndrome
  JOURNAL   Immunol Lett 258, 1-7 (2023)
   PUBMED   37127120
  REMARK    GeneRIF: Correlation of serum adenosine deaminase activity with
            disease activity in patients with primary Sjogren's syndrome.
REFERENCE   6  (bases 1 to 1496)
  AUTHORS   Hershfield,M. and Tarrant,T.
  TITLE     Adenosine Deaminase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301656
REFERENCE   7  (bases 1 to 1496)
  AUTHORS   Hirschhorn,R.
  TITLE     Identification of two new missense mutations (R156C and S291L) in
            two ADA- SCID patients unusual for response to therapy with partial
            exchange transfusions
  JOURNAL   Hum Mutat 1 (2), 166-168 (1992)
   PUBMED   1284479
REFERENCE   8  (bases 1 to 1496)
  AUTHORS   da Cunha,J.G.
  TITLE     [Adenosine deaminase. A pluridisciplinary enzyme]
  JOURNAL   Acta Med Port 4 (6), 315-323 (1991)
   PUBMED   1807098
  REMARK    Review article
REFERENCE   9  (bases 1 to 1496)
  AUTHORS   Aran,J.M., Colomer,D., Matutes,E., Vives-Corrons,J.L. and Franco,R.
  TITLE     Presence of adenosine deaminase on the surface of mononuclear blood
            cells: immunochemical localization using light and electron
            microscopy
  JOURNAL   J Histochem Cytochem 39 (8), 1001-1008 (1991)
   PUBMED   1856451
REFERENCE   10 (bases 1 to 1496)
  AUTHORS   Berkvens,T.M., van Ormondt,H., Gerritsen,E.J., Khan,P.M. and van
            der Eb,A.J.
  TITLE     Identical 3250-bp deletion between two AluI repeats in the ADA
            genes of unrelated ADA-SCID patients
  JOURNAL   Genomics 7 (4), 486-490 (1990)
   PUBMED   1696926
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139352.16 and Z97053.2.
            
            On Nov 21, 2018 this sequence version replaced NM_000022.3.
            
            Summary: This gene encodes an enzyme that catalyzes the hydrolysis
            of adenosine to inosine in the purine catabolic pathway. Various
            mutations have been described for this gene and have been linked to
            human diseases related to impaired immune function such as severe
            combined immunodeficiency disease (SCID) which is the result of a
            deficiency in the ADA enzyme. In ADA-deficient individuals there is
            a marked depletion of T, B, and NK lymphocytes, and consequently, a
            lack of both humoral and cellular immunity. Conversely, elevated
            levels of this enzyme are associated with congenital hemolytic
            anemia. [provided by RefSeq, Sep 2019].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC040226.1, X02994.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372874.9/ ENSP00000361965.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-125               AL139352.16        20873-20997         c
            126-187             AL139352.16        5525-5586           c
            188-310             Z97053.2           145953-146075       c
            311-454             Z97053.2           143362-143505       c
            455-570             Z97053.2           142475-142590       c
            571-698             Z97053.2           141108-141235       c
            699-770             Z97053.2           139913-139984       c
            771-872             Z97053.2           139735-139836       c
            873-937             Z97053.2           139494-139558       c
            938-1067            Z97053.2           137924-138053       c
            1068-1170           Z97053.2           137205-137307       c
            1171-1496           Z97053.2           136428-136753       c
FEATURES             Location/Qualifiers
     source          1..1496
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     gene            1..1496
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /note="adenosine deaminase"
                     /db_xref="GeneID:100"
                     /db_xref="HGNC:HGNC:186"
                     /db_xref="MIM:608958"
     exon            1..125
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /inference="alignment:Splign:2.1.0"
     CDS             93..1184
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /EC_number="3.5.4.4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     adenosine aminohydrolase"
                     /codon_start=1
                     /product="adenosine deaminase isoform 1"
                     /protein_id="NP_000013.2"
                     /db_xref="CCDS:CCDS13335.1"
                     /db_xref="GeneID:100"
                     /db_xref="HGNC:HGNC:186"
                     /db_xref="MIM:608958"
                     /translation="MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAE
                     GLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRY
                     SPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPN
                     WSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEV
                     GSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDT
                     EHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSF
                     LPEDEKRELLDLLYKAYGMPPSASAGQNL"
     exon            126..187
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /inference="alignment:Splign:2.1.0"
     exon            188..310
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /inference="alignment:Splign:2.1.0"
     exon            311..454
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /inference="alignment:Splign:2.1.0"
     exon            455..570
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /inference="alignment:Splign:2.1.0"
     exon            571..698
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /inference="alignment:Splign:2.1.0"
     exon            699..770
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /inference="alignment:Splign:2.1.0"
     exon            771..872
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /inference="alignment:Splign:2.1.0"
     exon            873..937
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /inference="alignment:Splign:2.1.0"
     exon            938..1067
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1068..1170
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..1496
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1467..1472
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /note="hexamer: AATAAA"
     polyA_site      1496
                     /gene="ADA"
                     /gene_synonym="ADA1"
                     /note="major polyA site"
ORIGIN      
        1 gctggcccca gggaaagccg agcggccacc gagccggcag agacccaccg agcggcggcg
       61 gagggagcag cgccggggcg cacgagggca ccatggccca gacgcccgcc ttcgacaagc
      121 ccaaagtgga actgcatgtc cacctagacg gatccatcaa gcctgaaacc atcttatact
      181 atggcaggag gagagggatc gccctcccag ctaacacagc agaggggctg ctgaacgtca
      241 ttggcatgga caagccgctc acccttccag acttcctggc caagtttgac tactacatgc
      301 ctgctatcgc gggctgccgg gaggctatca aaaggatcgc ctatgagttt gtagagatga
      361 aggccaaaga gggcgtggtg tatgtggagg tgcggtacag tccgcacctg ctggccaact
      421 ccaaagtgga gccaatcccc tggaaccagg ctgaagggga cctcacccca gacgaggtgg
      481 tggccctagt gggccagggc ctgcaggagg gggagcgaga cttcggggtc aaggcccggt
      541 ccatcctgtg ctgcatgcgc caccagccca actggtcccc caaggtggtg gagctgtgta
      601 agaagtacca gcagcagacc gtggtagcca ttgacctggc tggagatgag accatcccag
      661 gaagcagcct cttgcctgga catgtccagg cctaccagga ggctgtgaag agcggcattc
      721 accgtactgt ccacgccggg gaggtgggct cggccgaagt agtaaaagag gctgtggaca
      781 tactcaagac agagcggctg ggacacggct accacaccct ggaagaccag gccctttata
      841 acaggctgcg gcaggaaaac atgcacttcg agatctgccc ctggtccagc tacctcactg
      901 gtgcctggaa gccggacacg gagcatgcag tcattcggct caaaaatgac caggctaact
      961 actcgctcaa cacagatgac ccgctcatct tcaagtccac cctggacact gattaccaga
     1021 tgaccaaacg ggacatgggc tttactgaag aggagtttaa aaggctgaac atcaatgcgg
     1081 ccaaatctag tttcctccca gaagatgaaa agagggagct tctcgacctg ctctataaag
     1141 cctatgggat gccaccttca gcctctgcag ggcagaacct ctgaagacgc cactcctcca
     1201 agccttcacc ctgtggagtc accccaactc tgtggggctg agcaacattt ttacatttat
     1261 tccttccaag aagaccatga tctcaatagt cagttactga tgctcctgaa ccctatgtgt
     1321 ccatttctgc acacacgtat acctcggcat ggccgcgtca cttctctgat tatgtgccct
     1381 ggccagggac cagcgccctt gcacatgggc atggttgaat ctgaaaccct ccttctgtgg
     1441 caacttgtac tgaaaatctg gtgctcaata aagaagccca tggctggtgg catgca
//
